IBA57 gene related symptoms and diseases

All the information presented here about the IBA57 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to IBA57 gene

Symptoms // Phenotype	% Cases
Hypoplasia of the corpus callosum	Common - Between 50% and 80% cases
Visual impairment	Common - Between 50% and 80% cases
Spasticity	Common - Between 50% and 80% cases
Optic atrophy	Common - Between 50% and 80% cases
Diffuse leukoencephalopathy	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with IBA57 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Areflexia
Cerebellar atrophy
Hyperreflexia
Peripheral neuropathy
Progressive leukoencephalopathy
Frontoparietal polymicrogyria
Seizures
Pes cavus

And 69 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to IBA57 gene

Here you will find a list of rare diseases related to the IBA57. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME TYPE 3

Alternate names

MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME TYPE 3 Is also known as iba57 deficiency

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME TYPE 3

SOURCES: ORPHANET

MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

Description

MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Most common symptoms of MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

Seizures
Global developmental delay
Generalized hypotonia
Microcephaly
Growth delay

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

SOURCES: OMIM

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 74

Alternate names

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 74 Is also known as spg74

Description

Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.

Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 74

Spasticity
Visual impairment
Peripheral neuropathy
Hyperreflexia
Optic atrophy

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 74

SOURCES: ORPHANET OMIM

Search interest in IBA57

Potential gene panels for IBA57 gene

Hereditary Spastic Paraplegia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Spastic Paraplegia Exome Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1

IBA57 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to IBA57 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to IBA57 gene

MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME TYPE 3

Alternate names

MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

Description

Most common symptoms of MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 74

Alternate names

Description

Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 74

Search interest in IBA57

Potential gene panels for IBA57 gene

Hereditary Spastic Paraplegia Exome Panel Panel

Ataxia Exome Panel Panel

Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

Neurogenetic Disorders - panels Panel

Epileptic Encephalopathy Panel

Epilepsy and Mitochondrial Encephalopathy Panel

Mitochondrial Diseases Panel

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel

Mitochondrial Encephalopathy Panel

Epilepsy Panel

Multiple mitochondrial dysfunctions syndrome type 3 Panel

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Nuclear encoded Mitochondriopathies Panel Panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel Panel

IBA57 Panel

Spastic Paraplegia Panel Panel

Leukodystrophy and Leukoencephalopathy Panel Panel

Comprehensive Epilepsy Panel Panel

SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel